Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.Q82_P83Splc

ITM2B

212 papers

RefSeq Summary

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmem...

Pfam Domains

BRICHOSaa 139–230UCSCBRICHOS domain

Gene Aliases

HGNC Name

integral membrane protein 2B

HGNC Alias Symbols

E25B; E3-16; BRICD2B; BRI2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021999.5
p.Q82_P83Splc
c.247-2A>G
Surrounding Variants
1 paper
NM_021999.5
p.D85N
c.253G>A
1 paper
NM_021999.5
p.V86M
c.256G>A
1 paper
NM_021999.5
p.C89R
c.265T>C
1 paper
NM_021999.5
p.C89Y
c.266G>A
1 paper
NM_021999.5
p.G90_Y93del0
c.269_277del9
1 paper
NM_021999.5
p.G90G
c.270A>T
1 paper
NM_021999.5
p.Y93H
c.277T>C
1 paper
NM_021999.5
p.Y93*
c.279C>G
3 papers
NM_021999.5
p.D96A
c.287A>C
1 paper
NM_021999.5
p.V98I
c.292G>A
2 papers
NM_021999.5
p.L100V
c.298T>G
1 paper
NM_021999.5
p.E102A
c.305A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."